Smith–Martin–Dodd syndrome

Smith–Martin–Dodd syndrome is a very rare genetic disorder first described by Smith et al. in 1994.^[1] It is characterized by small eyes, a diaphragmatic hernia, and tetralogy of Fallot, a congenital heart defect.^[2][3] The only known case is of a 9-year-old boy with several congenital anomalies including a diaphragmatic hernia, microphthalmia, and Tetralogy of Fallot. It was found that the boy had a reciprocal translocation t(1;15)(q41;q21.2).^[4] A congenital diaphragmatic hernia is consistent with chromosome 1q41-q42 deletion syndrome,^[5] and the report by Smith et al. suggested that genes involved in the translocation may be important for the development of morphological characteristics, especially those of the eye or heart.^[1]